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American Journal of Human Genetics
|
July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
Michael D Fountain, Emmelien Aten, Megan T Cho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
Marina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
Genome Research
|
October 4, 2003
Development of human protein reference database as an initial platform for approaching systems biology in humans
Suraj Peri, J Daniel Navarro, Ramars Amanchy, et al.
Nature Biotechnology
|
June 15, 2022
The GA4GH Phenopacket schema defines a computable representation of clinical data
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, et al.
Brain : a Journal of Neurology
|
February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
Frontiers in Genetics
|
August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Nucleic Acids Research
|
November 9, 2019
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
Kent A Shefchek, Nomi L Harris, Michael Gargano, et al.
Nucleic Acids Research
|
December 1, 2016
The Human Phenotype Ontology in 2017
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Page
of 11
Search research articles
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Showing results (91-100 of 109) with videos related to
Sort By:
Page
of 11
American Journal of Human Genetics
|
July 14, 2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
Michael D Fountain, Emmelien Aten, Megan T Cho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
Marina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
Genome Research
|
October 4, 2003
Development of human protein reference database as an initial platform for approaching systems biology in humans
Suraj Peri, J Daniel Navarro, Ramars Amanchy, et al.
Nature Biotechnology
|
June 15, 2022
The GA4GH Phenopacket schema defines a computable representation of clinical data
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, et al.
Brain : a Journal of Neurology
|
February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
Frontiers in Genetics
|
August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Nucleic Acids Research
|
November 9, 2019
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
Kent A Shefchek, Nomi L Harris, Michael Gargano, et al.
Nucleic Acids Research
|
December 1, 2016
The Human Phenotype Ontology in 2017
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Page
of 11